Publications

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Displaying 1 through 9 of 9 publications.

O'Neill C, Mansfield C, Drake E, Coulter J, Peay HL. Parent prioritization of meaningful treatment targets for Sanfilippo syndrome. Poster presented at the 2020 World Symposium; February 2020. Orlando, FL. [abstract] Mol Genet Metab. 2020 Feb; 129(2):S121. doi: 10.1016/j.ymgme.2019.11.315

Noel E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagege A, Dupuis-Simeon F, Derrien V, Germain DP, Lidove O. Fabry patients' needs and expectations regarding their treatment in France: development of a Patients' Need Questionnaire (PNQ Fabry). Poster presented at the 2019 WORLDSymposium; February 2019. Orlando, FL. [abstract] Mol Genet Metab. 2019 Feb; 126(2):S110. doi: 10.1016/j.ymgme.2018.12.278

Kreher N, Phillips D, Fehnel S, Brown M. Evaluating the content validity of the Diary of Irritable Bowel Syndrome Symptoms – Mixed (DIBSS-M) to assess gastrointestinal symptoms associated with Fabry disease. Poster presented at the 16th Annual WORLDSymposium; February 11, 2019. Orlando, FL. [abstract] Mol Genet Metab. 2019 Feb; 126(2):S87. doi: 10.1016/j.ymgme.2018.12.215

Quittner AL, Alpern AN, Wolin D, McLeod L, Downey C, Nelson L, Khandelwal N. Psychometric analyses of a new GI symptom tracker for cystic fibrosis. Poster presented at the 31st Annual North American Cystic Fibrosis Conference; September 19, 2017. Indianapolis, IN. [abstract] Pediatr Pulmonol. 52(S47):453.

Quittner AL, Alpern AN, Wolin D, McLeod L, Downey C, Nelson L, Khandelwal N. Pysychometric analyses of a new GI symptom tracker for cystic fibrosis. Poster presented at the 31st Annual North American Cystic Fibrosis Conference; November 2, 2017. Indianapolis, IN. [abstract] Pediatr Pulmonol. 2017 Sep 19; 52(S47):S453. doi: 10.1002/ppul.23840

Slota C, Quintana M, Shrader J, Joe G, McKew J, Fitzgerald M, Gahl WA, Berry S, Carrillo N. GNE myopathy: disease progression determined by longitudinal natural history data and mathematical modeling. Poster presented at the Society for Inherited Metabolic Disorders Conference; April 2016. Ponte Vedra Beach, FL. [abstract] Mol Genet Metab. 2016 Apr; 117(2016):221-98.

Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, Hawe E, Iversen A, Wray R, Crook MA, Wierzbicki AS. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med (Berl). 2006;84(3):203-14.

Santanello N, Norquist J, Nelsen L, Williams V, Hill CD, Bisgaard H. Validation of a pediatric caregiver diary to measure symptoms of postacute respiratory syncytial virus bronchiolitis. Pediatr Pulmonol. 2005 Jul 1;40(1):31-8.

Enger C, Rothman KJ, Kylstra JW. Mortality rates during two years of treatment with intermittent inhaled tobramycin (TOBI) in cystic fibrosis. Pediatr Pulmonol. 1999 Sep 22;28(Suppl 19):339-40.